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ATAD2

Synonyms
ANCCA, CT137, PRO2000
External resources
Summary
A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
18
VUS
7,705
Likely benign
3,706
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on ATAD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
32%
Abnormality of the musculoskeletal system
28%
Abnormality of the nervous system
24%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of head or neck
16%
Abnormality of limbs
8%
Abnormality of the genitourinary system
8%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the breast
4%
Abnormality of the digestive system
4%
Abnormality of the immune system
4%
Abnormality of the integument
4%
Growth abnormality
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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